S7S (p.Ser7Ser) variant of SPINK5 (Q9NQ38)
S7S (p.Ser7Ser) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs1468320558
- gnomAD 5-148064065-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0905
- CADD 1.39
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available